Natalia Alexandra Julià Palacios
Investigador pre-doc
Grupo de investigación
Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas
Últimas publicaciones
- Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julià-Palacios NA, Friedman J, Yildiz Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H, Burlina A, Cortés-Saladelafont E, Fernández Ramos JA, Garcia-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanovic G, Fung CW and International Working Group on Neurotransmitter related Disorders (iNTD) Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. JOURNAL OF INHERITED METABOLIC DISEASE . 44(6): 1489-1502.
- Santos-Gómez A, Miguez-Cabello F, García-Recio A, Locubiche S, García-Díaz R, Soto V, Guerrero-López R, Julià-Palacios NA, Ciruela F, Garcia-Cazorla A, Soto D, Olivella M and Altafaj X Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function. HUMAN MOLECULAR GENETICS . 29(24): 3859-3871.
- Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Julià-Palacios NA, Garcia-Cazorla A, Dionisi-Vici C and Kölker S U-IMD: the first Unified European registry for inherited metabolic diseases. ORPHANET JOURNAL OF RARE DISEASES . 16(1): 95-95.